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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Among authors: riera escamilla a. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
Genetics of male infertility.
Krausz C, Riera-Escamilla A. Krausz C, et al. Nat Rev Urol. 2018 Jun;15(6):369-384. doi: 10.1038/s41585-018-0003-3. Nat Rev Urol. 2018. PMID: 29622783 Review.
Monogenic Forms of Male Infertility.
Krausz C, Riera-Escamilla A. Krausz C, et al. Exp Suppl. 2019;111:341-366. doi: 10.1007/978-3-030-25905-1_16. Exp Suppl. 2019. PMID: 31588539 Review.
The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C. Vockel M, et al. Hum Genet. 2021 Jan;140(1):203-215. doi: 10.1007/s00439-019-02101-w. Epub 2019 Dec 24. Hum Genet. 2021. PMID: 31875237 Free PMC article. Review.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Riera-Escamilla A, et al. Am J Hum Genet. 2022 Aug 4;109(8):1458-1471. doi: 10.1016/j.ajhg.2022.06.007. Epub 2022 Jul 8. Am J Hum Genet. 2022. PMID: 35809576 Free PMC article.
A de novo paradigm for male infertility.
Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E; Genetics of Male Infertility Initiative (GEMINI) consortium; Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. Oud MS, et al. Among authors: riera escamilla a. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8. Nat Commun. 2022. PMID: 35013161 Free PMC article.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. Krausz C, et al. Genet Med. 2020 Dec;22(12):1956-1966. doi: 10.1038/s41436-020-0907-1. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741963 Free PMC article.
26 results